Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Muraresku CC"'
Autor:
Pagnamenta, AT, Kaiyrzhanov, R, Zou, Y, Da'as, SI, Maroofian, R, Donkervoort, S, Dominik, N, Lauffer, M, Ferla, MP, Orioli, A, Giess, A, Tucci, A, Beetz, C, Sedghi, M, Ansari, B, Barresi, R, Basiri, K, Cortese, A, Elgar, G, Fernandez-Garcia, MA, Yip, J, Foley, AR, Gutowski, N, Jungbluth, H, Lassche, S, Lavin, T, Marcelis, C, Marks, P, Marini-Bettolo, C, Medne, L, Moslemi, A-R, Sarkozy, A, Reilly, MM, Muntoni, F, Millan, F, Muraresku, CC, Need, AC, Nemeth, AH, Neuhaus, SB, Norwood, F, O'Donnell, M, O'Driscoll, M, Rankin, J, Yum, SW, Zolkipli-Cunningham, Z, Brusius, I, Wunderlich, G, Genomics England Research Consortium, Karakaya, M, Wirth, B, Fakhro, KA, Tajsharghi, H, Bönnemann, CG, Taylor, JC, Houlden, H
The extracellular matrix comprises a network of macromolecules such as collagens, proteoglycans and glycoproteins. VWA1 (von Willebrand factor A domain containing 1) encodes a component of the extracellular matrix that interacts with perlecan/collage
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::9ace190b5c0e052e8600958734973424
https://openaccess.sgul.ac.uk/id/eprint/112991/1/awaa420.pdf
https://openaccess.sgul.ac.uk/id/eprint/112991/1/awaa420.pdf
Autor:
Muraresku CC; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., McCormick EM; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Rockart L; 22q and You Center, Clinical Genetics, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Blaine Crowley T; 22q and You Center, Clinical Genetics, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Asher S; Division of Translational Medicine and Human Genetics, Department of Medicine, Perelman School of Medicine, Penn Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Back A; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Division of Neurology, The Epilepsy Neurogenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Baldino SM; Division of Oncology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Bedoukian E; Roberts Individualized Medical Genetics Center (RIMGC), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Britt AD; Comprehensive Vascular Anomalies Program, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Burrill N; Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Cacioppo C; Penn Telegenetics Program, University of Pennsylvania, Philadelphia, PA 19104, USA., Clark DF; Division of Hematology and Oncology, Department of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Clark ME; Division of Hematology and Oncology, Department of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Conway L; Master of Science in Genetic Counseling Program, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Dratch L; Department of Neurology, University of Pennsylvania, Philadelphia, PA 19104, USA., Dubbs HA; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Engelhardt NM; Section of Biochemical Genetics, Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Ginn N; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Division of Neurology, The Epilepsy Neurogenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Gray C; Roberts Individualized Medical Genetics Center (RIMGC), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Hartman T; Master of Science in Genetic Counseling Program, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Hathaway ER; Division of Oncology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Helbig KL; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Hoffman-Andrews L; Division of Cardiovascular Medicine, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Kasperski S; Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Keena BA; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Keller KN; Center for Mitochondrial and Epigenomic Medicine, Department of Pathology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Long JM; Basser Center for BRCA, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Lulis L; Division of Genomic Diagnostics, Department of Pathology, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Lusk L; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Division of Neurology, The Epilepsy Neurogenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., McGinn DE; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; 22q and You Center, Clinical Genetics, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Mueller R; Masters Genetic Counseling Program, Department of Medical Ethics and Health Policy, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Paul RA; Department of Neurology, University of Pennsylvania, Philadelphia, PA 19104, USA., Pilchman L; Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Powers J; Basser Center for BRCA, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Raible SE; Roberts Individualized Medical Genetics Center (RIMGC), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Reichert S; Division of Genomic Diagnostics, Department of Pathology, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Rippert AL; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Division of Cardiology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Arnold AG; Basser Center for BRCA, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Ruggiero SM; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Division of Neurology, The Epilepsy Neurogenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Division of Neurology, The Epilepsy Neurogenetics Initiative, Center for Epilepsy and Neurodevelopmental Disorders (ENDD), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Schindewolf E; CHOP Precision Medicine Services, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Sullivan KR; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Division of Neurology, The Epilepsy Neurogenetics Initiative, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Terek S; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Wang B; 22q and You Center, Clinical Genetics, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Wells M; Department of Neurology, University of Pennsylvania, Philadelphia, PA 19104, USA., Wisniewski N; Obstetrics and Gynecology Reproductive Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Wright R; Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Wood EM; Penn Telegenetics Program, University of Pennsylvania, Philadelphia, PA 19104, USA., Woyciechowski S; Division of Cardiology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Zelley K; Division of Oncology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Valverde KD; Master of Science in Genetic Counseling Program, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., McDonald-McGinn DM; 22q and You Center, Clinical Genetics, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.; Department of Human Biology and Medical Genetics, Sapienza University, 00185 Rome, Italy.
Publikováno v:
Genes [Genes (Basel)] 2024 Jul 01; Vol. 15 (7). Date of Electronic Publication: 2024 Jul 01.
Autor:
MacMullen LE; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, United States of America., George-Sankoh I; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, United States of America; Department of Bioinformatics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, United States of America., Stanley K; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, United States of America., McCormick EM; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, United States of America., Muraresku CC; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, United States of America., Goldstein A; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, United States of America; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, United States of America., Zolkipli-Cunningham Z; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, United States of America; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, United States of America., Falk MJ; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA 19104, United States of America; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, United States of America. Electronic address: falkm@chop.edu.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2024 May; Vol. 142 (1), pp. 108348. Date of Electronic Publication: 2024 Feb 16.
Autor:
Qi C; Department of Human Genetics, The University of Chicago, Chicago, IL., Feng I; Department of Human Genetics, The University of Chicago, Chicago, IL., Costa AR; Nerve Regeneration Group, Instituto de Biologia Molecular e Celular (IBMC) and Instituto de Inovação e Investigação em Saúde, University of Porto, Porto, Portugal., Pinto-Costa R; Nerve Regeneration Group, Instituto de Biologia Molecular e Celular (IBMC) and Instituto de Inovação e Investigação em Saúde, University of Porto, Porto, Portugal., Neil JE; Division of Genetics and Genomics and Howard Hughes Medical Institute, Boston Children's Hospital, Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA., Caluseriu O; Department of Medical Genetics, Faculty of Medicine & Dentistry, University of Alberta, Edmonton, Alberta, Canada., Li D; Center for Applied Genomics, The Joseph Stokes Jr Research Institute, The Children's Hospital of Philadelphia, Philadelphia, PA., Ganetzky RD; Mitochondrial Medicine Frontier Program, Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA; Department of Pediatrics, The Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA., Brasch-Andersen C; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Fagerberg C; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Hansen LK; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Bupp C; Medical Genetics, Helen DeVos Children's Hospital, Grand Rapids, MI., Muraresku CC; Mitochondrial Medicine Frontier Program, Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA; Department of Pediatrics, The Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA., Ruan X; Department of Human Genetics, The University of Chicago, Chicago, IL., Kang B; Department of Human Genetics, The University of Chicago, Chicago, IL., Hu K; Department of Human Genetics, The University of Chicago, Chicago, IL., Zhong R; Department of Human Genetics, The University of Chicago, Chicago, IL., Brites P; Neurolipid Biology, Instituto de Inovação e Investigação em Saúde, and Instituto de Biologia Molecular e Celular (IBMC), University of Porto, Porto, Portugal., Bhoj EJ; Center for Applied Genomics, The Joseph Stokes Jr Research Institute, The Children's Hospital of Philadelphia, Philadelphia, PA., Hill RS; Division of Genetics and Genomics and Howard Hughes Medical Institute, Boston Children's Hospital, Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA., Falk MJ; Mitochondrial Medicine Frontier Program, Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA; Department of Pediatrics, The Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA., Hakonarson H; Center for Applied Genomics, The Joseph Stokes Jr Research Institute, The Children's Hospital of Philadelphia, Philadelphia, PA; Department of Pediatrics, The Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA., Kahle KT; Departments of Neurosurgery, Pediatrics, and Cellular & Molecular Physiology, Yale School of Medicine, New Haven, CT., Sousa MM; Nerve Regeneration Group, Instituto de Biologia Molecular e Celular (IBMC) and Instituto de Inovação e Investigação em Saúde, University of Porto, Porto, Portugal. Electronic address: msousa@ibmc.up.pt., Walsh CA; Division of Genetics and Genomics and Howard Hughes Medical Institute, Boston Children's Hospital, Departments of Pediatrics and Neurology, Harvard Medical School, Boston, MA. Electronic address: christopher.walsh@childrens.harvard.edu., Zhang X; Department of Human Genetics, The University of Chicago, Chicago, IL; The Neuroscience Institute, The University of Chicago, Chicago, IL. Electronic address: xczhang@uchicago.edu.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Feb; Vol. 24 (2), pp. 319-331. Date of Electronic Publication: 2021 Nov 30.
Autor:
Wang J; Division of Genomic Diagnostics, Department of Pathology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Balciuniene J; Division of Genomic Diagnostics, Department of Pathology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Diaz-Miranda MA; Division of Genomic Diagnostics, Department of Pathology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., McCormick EM; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Aref-Eshghi E; Division of Genomic Diagnostics, Department of Pathology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Muir AM; Division of Genomic Diagnostics, Department of Pathology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Cao K; Division of Genomic Diagnostics, Department of Pathology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Troiani J; Division of Genomic Diagnostics, Department of Pathology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Moseley A; Division of Genomic Diagnostics, Department of Pathology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Fan Z; Division of Genomic Diagnostics, Department of Pathology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Zolkipli-Cunningham Z; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Goldstein A; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Ganetzky RD; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Muraresku CC; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Peterson JT; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Spinner NB; Division of Genomic Diagnostics, Department of Pathology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Wallace DC; Center for Mitochondrial and Epigenomic Medicine, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, USA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Dulik MC; Division of Genomic Diagnostics, Department of Pathology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. Electronic address: DulikM@chop.edu., Falk MJ; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. Electronic address: FALKM@chop.edu.
Publikováno v:
Molecular genetics and metabolism [Mol Genet Metab] 2022 Jan; Vol. 135 (1), pp. 93-101. Date of Electronic Publication: 2021 Dec 18.
Autor:
Flickinger J; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Physical Therapy, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Fan J; Department of Biostatistics, Epidemiology and Informatics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA., Wellik A; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Ganetzky R; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA., Goldstein A; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA., Muraresku CC; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Glanzman AM; Department of Physical Therapy, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Ballance E; Department of Physical Therapy, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Leonhardt K; Department of Physical Therapy, Children's Hospital of Philadelphia, Philadelphia, PA, USA., McCormick EM; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Soreth B; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Nguyen S; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Gornish J; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., George-Sankoh I; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Peterson J; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., MacMullen LE; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Vishnubhatt S; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., McBride M; Cardiovascular Exercise Physiology Laboratory, Division of Cardiology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Haas R; Metabolic and Mitochondrial Disease Center, La Jolla, CA, USA.; Department of Neurosciences, University of California San Diego School of Medicine, La Jolla, CA, USA., Falk MJ; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA., Xiao R; Department of Biostatistics, Epidemiology and Informatics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA., Zolkipli-Cunningham Z; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA.
Publikováno v:
JCSM clinical reports [JCSM Clin Rep] 2021 Oct; Vol. 6 (4), pp. 109-127. Date of Electronic Publication: 2021 Aug 30.
Autor:
Pagnamenta AT; NIHR Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK., Kaiyrzhanov R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK., Zou Y; Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, National Institutes of Health, Bethesda, MD, USA., Da'as SI; Department of Human Genetics, Sidra Medicine, Doha, Qatar., Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK., Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, National Institutes of Health, Bethesda, MD, USA., Dominik N; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK., Lauffer M; Institute of Human Genetics, Center for Molecular Medicine Cologne (CMMC), Institute of Genetics, and Center for Rare Diseases Cologne, University of Cologne, Cologne, Germany., Ferla MP; NIHR Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK., Orioli A; William Harvey Research Institute, Queen Mary University of London, London, UK.; Genomics England, London, UK., Giess A; William Harvey Research Institute, Queen Mary University of London, London, UK.; Genomics England, London, UK., Tucci A; William Harvey Research Institute, Queen Mary University of London, London, UK.; Genomics England, London, UK., Beetz C; Centogene AG, Rostock, Germany., Sedghi M; Medical Genetics Laboratory, Alzahra University Hospital, Isfahan University of Medical Sciences, Isfahan, Iran., Ansari B; Department of Neurology, Faculty of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran., Barresi R; The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle, UK.; Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle, UK., Basiri K; Department of Neurology, Faculty of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran., Cortese A; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK., Elgar G; William Harvey Research Institute, Queen Mary University of London, London, UK.; Genomics England, London, UK., Fernandez-Garcia MA; Department of Paediatric Neurology - Neuromuscular Service, Evelina Children's Hospital, Guy's & St Thomas' NHS Foundation Trust, London, UK., Yip J; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK., Foley AR; Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, National Institutes of Health, Bethesda, MD, USA., Gutowski N; Department of Neurology, Royal Devon and Exeter NHS Trust, Exeter, UK., Jungbluth H; Department of Paediatric Neurology - Neuromuscular Service, Evelina Children's Hospital, Guy's & St Thomas' NHS Foundation Trust, London, UK.; Randall Division of Cell and Molecular Biophysics Muscle Signalling Section, King's College London, London, UK.; Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK., Lassche S; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, Nijmegen, The Netherlands., Lavin T; Department of Neurology, Salford Royal NHS Foundation Trust, Manchester, UK., Marcelis C; Department of Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands., Marks P; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospital NHS Foundation Trust, Birmingham, UK., Marini-Bettolo C; The John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle, UK.; Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle, UK., Medne L; Divisions of Neurology and Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Moslemi AR; Department of Pathology, University of Gothenburg, Sahlgrenska University Hospital, Sweden., Sarkozy A; The Dubowitz Neuromuscular Centre, NIHR Great Ormond Street Hospital Biomedical Research Centre, UCL Great Ormond Street Institute of Child Health, and Great Ormond Street Hospital Trust, London, UK., Reilly MM; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK., Muntoni F; The Dubowitz Neuromuscular Centre, NIHR Great Ormond Street Hospital Biomedical Research Centre, UCL Great Ormond Street Institute of Child Health, and Great Ormond Street Hospital Trust, London, UK., Millan F; GeneDx, Gaithersburg, 20877 MD, USA., Muraresku CC; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Children's Hospital of Philadelphia, PA, USA., Need AC; William Harvey Research Institute, Queen Mary University of London, London, UK.; Genomics England, London, UK., Nemeth AH; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Trust, Oxford, UK., Neuhaus SB; Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, National Institutes of Health, Bethesda, MD, USA., Norwood F; Department of Neurology, King's College Hospital, London, UK., O'Donnell M; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospital NHS Foundation Trust, Birmingham, UK., O'Driscoll M; West Midlands Regional Clinical Genetics Service and Birmingham Health Partners, Birmingham Women's and Children's Hospital NHS Foundation Trust, Birmingham, UK., Rankin J; Peninsula Clinical Genetics Service, Royal Devon and Exeter NHS Trust, Exeter, UK., Yum SW; Division of Pediatric Neurology, The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA., Zolkipli-Cunningham Z; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Children's Hospital of Philadelphia, PA, USA.; Department of Pediatrics, Perelman School of Medicine, Philadelphia, PA, USA., Brusius I; Institute of Human Genetics, Center for Molecular Medicine Cologne (CMMC), Institute of Genetics, and Center for Rare Diseases Cologne, University of Cologne, Cologne, Germany., Wunderlich G; Department of Neurology, Center for Rare Diseases Cologne, University Hospital Cologne, Cologne, Germany., Karakaya M; Institute of Human Genetics, Center for Molecular Medicine Cologne (CMMC), Institute of Genetics, and Center for Rare Diseases Cologne, University of Cologne, Cologne, Germany., Wirth B; Institute of Human Genetics, Center for Molecular Medicine Cologne (CMMC), Institute of Genetics, and Center for Rare Diseases Cologne, University of Cologne, Cologne, Germany., Fakhro KA; Department of Human Genetics, Sidra Medicine, Doha, Qatar.; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar.; Department of Genetic Medicine, Weill Cornell Medical College, Doha, Qatar., Tajsharghi H; School of Health Science, Division Biomedicine and Translational Medicine, University of Skovde, Sweden., Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, NINDS, National Institutes of Health, Bethesda, MD, USA., Taylor JC; NIHR Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK., Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK.
Publikováno v:
Brain : a journal of neurology [Brain] 2021 Mar 03; Vol. 144 (2), pp. 584-600.
Autor:
Shen L; Keck School of Medicine of USC, Center for Personalized Medicine, Children's Hospital Los Angeles, Suite 300, 2100 West 3rd Street, Los Angeles, CA 90057, USA., McCormick EM; Mitochondrial Medicine Frontier Program, Children's Hospital of Philadelphia, 3401 Civic Center Boulevard, Philadelphia, PA 19104, USA., Muraresku CC; Mitochondrial Medicine Frontier Program, Children's Hospital of Philadelphia, 3401 Civic Center Boulevard, Philadelphia, PA 19104, USA., Falk MJ; CHOP Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, The Children's Hospital of Philadelphia, ARC 1002c, 3615 Civic Center Boulevard, Philadelphia, PA 19104, USA., Gai X; Keck School of Medicine of USC, Center for Personalized Medicine, Children's Hospital Los Angeles, Suite 300, 2100 West 3rd Street, Los Angeles, CA 90057, USA. Electronic address: xgai@chla.usc.edu.
Publikováno v:
Clinics in laboratory medicine [Clin Lab Med] 2020 Jun; Vol. 40 (2), pp. 149-161.
Autor:
Gonçalves FG; From the Departments of Radiology and Division of Neuroradiology (F.G.G., B.H., C.A.P.F.A., S.R.T., J.S.M.-S., A.V., G.Z.) goncalves.neuroradio@gmail.com., Hill B; From the Departments of Radiology and Division of Neuroradiology (F.G.G., B.H., C.A.P.F.A., S.R.T., J.S.M.-S., A.V., G.Z.)., Guo Y; Departments of Pediatrics (Y.G., Z.Z.-C., M.J.F., A.G.)., Muraresku CC; Mitochondrial Medicine Frontier Program, Division of Human Genetics (C.C.M., E.M., Z.Z.-C., M.J.F., A.G.), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., McCormick E; Mitochondrial Medicine Frontier Program, Division of Human Genetics (C.C.M., E.M., Z.Z.-C., M.J.F., A.G.), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Alves CAPF; From the Departments of Radiology and Division of Neuroradiology (F.G.G., B.H., C.A.P.F.A., S.R.T., J.S.M.-S., A.V., G.Z.)., Teixeira SR; From the Departments of Radiology and Division of Neuroradiology (F.G.G., B.H., C.A.P.F.A., S.R.T., J.S.M.-S., A.V., G.Z.)., Martin-Saavedra JS; From the Departments of Radiology and Division of Neuroradiology (F.G.G., B.H., C.A.P.F.A., S.R.T., J.S.M.-S., A.V., G.Z.)., Zolkipli-Cunningham Z; Mitochondrial Medicine Frontier Program, Division of Human Genetics (C.C.M., E.M., Z.Z.-C., M.J.F., A.G.), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Departments of Pediatrics (Y.G., Z.Z.-C., M.J.F., A.G.)., Falk MJ; Mitochondrial Medicine Frontier Program, Division of Human Genetics (C.C.M., E.M., Z.Z.-C., M.J.F., A.G.), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Departments of Pediatrics (Y.G., Z.Z.-C., M.J.F., A.G.)., Vossough A; From the Departments of Radiology and Division of Neuroradiology (F.G.G., B.H., C.A.P.F.A., S.R.T., J.S.M.-S., A.V., G.Z.).; Radiology (A.V.), University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania., Goldstein A; Mitochondrial Medicine Frontier Program, Division of Human Genetics (C.C.M., E.M., Z.Z.-C., M.J.F., A.G.), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.; Departments of Pediatrics (Y.G., Z.Z.-C., M.J.F., A.G.)., Zuccoli G; From the Departments of Radiology and Division of Neuroradiology (F.G.G., B.H., C.A.P.F.A., S.R.T., J.S.M.-S., A.V., G.Z.).; The Program for the Study of Neurodevelopment in Rare Disorders (NDRD) (G.Z.), Children's Hospital of Pittsburgh of UPMC.
Publikováno v:
AJNR. American journal of neuroradiology [AJNR Am J Neuroradiol] 2020 May; Vol. 41 (5), pp. 917-922. Date of Electronic Publication: 2020 May 07.
Autor:
Madsen KL; From Copenhagen Neuromuscular Center (K.L.M., A.E.B., J.V.), Rigshospitalet, University of Copenhagen, Denmark; Akron Children's Hospital (B.H.C.), OH; Mitochondrial Medicine Frontier Program, Department of Pediatrics (M.J.F., C.C.M., Z.Z.C.), The Children's Hospital of Philadelphia; University of Pennsylvania Perelman School of Medicine (M.J.F., Z.Z.C.), Philadelphia; Reata Pharmaceuticals (A. Goldsberry, C.M., M.O.), Irving, TX; University of Pittsburgh School of Medicine (A. Goldstein, J.V.), Children's Hospital of Pittsburgh of UPMC, PA; Genetics Unit (A.K.), Massachusetts General, Boston; University of Texas Medical School (M.K.K.); Baylor College of Medicine (F.S.); Texas Children's Hospital (F.S.), Houston; BCM-CUHK Center of Medical Genetics (F.S.), Prince of Wales Hospital, ShaTin, New Territories, Hong Kong; University of California Los Angeles (P.B.S.); and University of Texas Southwestern Medical Center and Neuromuscular Center (R.G.H.), Institute for Exercise & Environmental Medicine, Dallas. karen.lindhardt.madsen@regionh.dk., Buch AE; From Copenhagen Neuromuscular Center (K.L.M., A.E.B., J.V.), Rigshospitalet, University of Copenhagen, Denmark; Akron Children's Hospital (B.H.C.), OH; Mitochondrial Medicine Frontier Program, Department of Pediatrics (M.J.F., C.C.M., Z.Z.C.), The Children's Hospital of Philadelphia; University of Pennsylvania Perelman School of Medicine (M.J.F., Z.Z.C.), Philadelphia; Reata Pharmaceuticals (A. Goldsberry, C.M., M.O.), Irving, TX; University of Pittsburgh School of Medicine (A. Goldstein, J.V.), Children's Hospital of Pittsburgh of UPMC, PA; Genetics Unit (A.K.), Massachusetts General, Boston; University of Texas Medical School (M.K.K.); Baylor College of Medicine (F.S.); Texas Children's Hospital (F.S.), Houston; BCM-CUHK Center of Medical Genetics (F.S.), Prince of Wales Hospital, ShaTin, New Territories, Hong Kong; University of California Los Angeles (P.B.S.); and University of Texas Southwestern Medical Center and Neuromuscular Center (R.G.H.), Institute for Exercise & Environmental Medicine, Dallas., Cohen BH; From Copenhagen Neuromuscular Center (K.L.M., A.E.B., J.V.), Rigshospitalet, University of Copenhagen, Denmark; Akron Children's Hospital (B.H.C.), OH; Mitochondrial Medicine Frontier Program, Department of Pediatrics (M.J.F., C.C.M., Z.Z.C.), The Children's Hospital of Philadelphia; University of Pennsylvania Perelman School of Medicine (M.J.F., Z.Z.C.), Philadelphia; Reata Pharmaceuticals (A. Goldsberry, C.M., M.O.), Irving, TX; University of Pittsburgh School of Medicine (A. Goldstein, J.V.), Children's Hospital of Pittsburgh of UPMC, PA; Genetics Unit (A.K.), Massachusetts General, Boston; University of Texas Medical School (M.K.K.); Baylor College of Medicine (F.S.); Texas Children's Hospital (F.S.), Houston; BCM-CUHK Center of Medical Genetics (F.S.), Prince of Wales Hospital, ShaTin, New Territories, Hong Kong; University of California Los Angeles (P.B.S.); and University of Texas Southwestern Medical Center and Neuromuscular Center (R.G.H.), Institute for Exercise & Environmental Medicine, Dallas., Falk MJ; From Copenhagen Neuromuscular Center (K.L.M., A.E.B., J.V.), Rigshospitalet, University of Copenhagen, Denmark; Akron Children's Hospital (B.H.C.), OH; Mitochondrial Medicine Frontier Program, Department of Pediatrics (M.J.F., C.C.M., Z.Z.C.), The Children's Hospital of Philadelphia; University of Pennsylvania Perelman School of Medicine (M.J.F., Z.Z.C.), Philadelphia; Reata Pharmaceuticals (A. Goldsberry, C.M., M.O.), Irving, TX; University of Pittsburgh School of Medicine (A. Goldstein, J.V.), Children's Hospital of Pittsburgh of UPMC, PA; Genetics Unit (A.K.), Massachusetts General, Boston; University of Texas Medical School (M.K.K.); Baylor College of Medicine (F.S.); Texas Children's Hospital (F.S.), Houston; BCM-CUHK Center of Medical Genetics (F.S.), Prince of Wales Hospital, ShaTin, New Territories, Hong Kong; University of California Los Angeles (P.B.S.); and University of Texas Southwestern Medical Center and Neuromuscular Center (R.G.H.), Institute for Exercise & Environmental Medicine, Dallas., Goldsberry A; From Copenhagen Neuromuscular Center (K.L.M., A.E.B., J.V.), Rigshospitalet, University of Copenhagen, Denmark; Akron Children's Hospital (B.H.C.), OH; Mitochondrial Medicine Frontier Program, Department of Pediatrics (M.J.F., C.C.M., Z.Z.C.), The Children's Hospital of Philadelphia; University of Pennsylvania Perelman School of Medicine (M.J.F., Z.Z.C.), Philadelphia; Reata Pharmaceuticals (A. Goldsberry, C.M., M.O.), Irving, TX; University of Pittsburgh School of Medicine (A. Goldstein, J.V.), Children's Hospital of Pittsburgh of UPMC, PA; Genetics Unit (A.K.), Massachusetts General, Boston; University of Texas Medical School (M.K.K.); Baylor College of Medicine (F.S.); Texas Children's Hospital (F.S.), Houston; BCM-CUHK Center of Medical Genetics (F.S.), Prince of Wales Hospital, ShaTin, New Territories, Hong Kong; University of California Los Angeles (P.B.S.); and University of Texas Southwestern Medical Center and Neuromuscular Center (R.G.H.), Institute for Exercise & Environmental Medicine, Dallas., Goldstein A; From Copenhagen Neuromuscular Center (K.L.M., A.E.B., J.V.), Rigshospitalet, University of Copenhagen, Denmark; Akron Children's Hospital (B.H.C.), OH; Mitochondrial Medicine Frontier Program, Department of Pediatrics (M.J.F., C.C.M., Z.Z.C.), The Children's Hospital of Philadelphia; University of Pennsylvania Perelman School of Medicine (M.J.F., Z.Z.C.), Philadelphia; Reata Pharmaceuticals (A. Goldsberry, C.M., M.O.), Irving, TX; University of Pittsburgh School of Medicine (A. Goldstein, J.V.), Children's Hospital of Pittsburgh of UPMC, PA; Genetics Unit (A.K.), Massachusetts General, Boston; University of Texas Medical School (M.K.K.); Baylor College of Medicine (F.S.); Texas Children's Hospital (F.S.), Houston; BCM-CUHK Center of Medical Genetics (F.S.), Prince of Wales Hospital, ShaTin, New Territories, Hong Kong; University of California Los Angeles (P.B.S.); and University of Texas Southwestern Medical Center and Neuromuscular Center (R.G.H.), Institute for Exercise & Environmental Medicine, Dallas., Karaa A; From Copenhagen Neuromuscular Center (K.L.M., A.E.B., J.V.), Rigshospitalet, University of Copenhagen, Denmark; Akron Children's Hospital (B.H.C.), OH; Mitochondrial Medicine Frontier Program, Department of Pediatrics (M.J.F., C.C.M., Z.Z.C.), The Children's Hospital of Philadelphia; University of Pennsylvania Perelman School of Medicine (M.J.F., Z.Z.C.), Philadelphia; Reata Pharmaceuticals (A. Goldsberry, C.M., M.O.), Irving, TX; University of Pittsburgh School of Medicine (A. Goldstein, J.V.), Children's Hospital of Pittsburgh of UPMC, PA; Genetics Unit (A.K.), Massachusetts General, Boston; University of Texas Medical School (M.K.K.); Baylor College of Medicine (F.S.); Texas Children's Hospital (F.S.), Houston; BCM-CUHK Center of Medical Genetics (F.S.), Prince of Wales Hospital, ShaTin, New Territories, Hong Kong; University of California Los Angeles (P.B.S.); and University of Texas Southwestern Medical Center and Neuromuscular Center (R.G.H.), Institute for Exercise & Environmental Medicine, Dallas., Koenig MK; From Copenhagen Neuromuscular Center (K.L.M., A.E.B., J.V.), Rigshospitalet, University of Copenhagen, Denmark; Akron Children's Hospital (B.H.C.), OH; Mitochondrial Medicine Frontier Program, Department of Pediatrics (M.J.F., C.C.M., Z.Z.C.), The Children's Hospital of Philadelphia; University of Pennsylvania Perelman School of Medicine (M.J.F., Z.Z.C.), Philadelphia; Reata Pharmaceuticals (A. Goldsberry, C.M., M.O.), Irving, TX; University of Pittsburgh School of Medicine (A. Goldstein, J.V.), Children's Hospital of Pittsburgh of UPMC, PA; Genetics Unit (A.K.), Massachusetts General, Boston; University of Texas Medical School (M.K.K.); Baylor College of Medicine (F.S.); Texas Children's Hospital (F.S.), Houston; BCM-CUHK Center of Medical Genetics (F.S.), Prince of Wales Hospital, ShaTin, New Territories, Hong Kong; University of California Los Angeles (P.B.S.); and University of Texas Southwestern Medical Center and Neuromuscular Center (R.G.H.), Institute for Exercise & Environmental Medicine, Dallas., Muraresku CC; From Copenhagen Neuromuscular Center (K.L.M., A.E.B., J.V.), Rigshospitalet, University of Copenhagen, Denmark; Akron Children's Hospital (B.H.C.), OH; Mitochondrial Medicine Frontier Program, Department of Pediatrics (M.J.F., C.C.M., Z.Z.C.), The Children's Hospital of Philadelphia; University of Pennsylvania Perelman School of Medicine (M.J.F., Z.Z.C.), Philadelphia; Reata Pharmaceuticals (A. Goldsberry, C.M., M.O.), Irving, TX; University of Pittsburgh School of Medicine (A. Goldstein, J.V.), Children's Hospital of Pittsburgh of UPMC, PA; Genetics Unit (A.K.), Massachusetts General, Boston; University of Texas Medical School (M.K.K.); Baylor College of Medicine (F.S.); Texas Children's Hospital (F.S.), Houston; BCM-CUHK Center of Medical Genetics (F.S.), Prince of Wales Hospital, ShaTin, New Territories, Hong Kong; University of California Los Angeles (P.B.S.); and University of Texas Southwestern Medical Center and Neuromuscular Center (R.G.H.), Institute for Exercise & Environmental Medicine, Dallas., Meyer C; From Copenhagen Neuromuscular Center (K.L.M., A.E.B., J.V.), Rigshospitalet, University of Copenhagen, Denmark; Akron Children's Hospital (B.H.C.), OH; Mitochondrial Medicine Frontier Program, Department of Pediatrics (M.J.F., C.C.M., Z.Z.C.), The Children's Hospital of Philadelphia; University of Pennsylvania Perelman School of Medicine (M.J.F., Z.Z.C.), Philadelphia; Reata Pharmaceuticals (A. Goldsberry, C.M., M.O.), Irving, TX; University of Pittsburgh School of Medicine (A. Goldstein, J.V.), Children's Hospital of Pittsburgh of UPMC, PA; Genetics Unit (A.K.), Massachusetts General, Boston; University of Texas Medical School (M.K.K.); Baylor College of Medicine (F.S.); Texas Children's Hospital (F.S.), Houston; BCM-CUHK Center of Medical Genetics (F.S.), Prince of Wales Hospital, ShaTin, New Territories, Hong Kong; University of California Los Angeles (P.B.S.); and University of Texas Southwestern Medical Center and Neuromuscular Center (R.G.H.), Institute for Exercise & Environmental Medicine, Dallas., O'Grady M; From Copenhagen Neuromuscular Center (K.L.M., A.E.B., J.V.), Rigshospitalet, University of Copenhagen, Denmark; Akron Children's Hospital (B.H.C.), OH; Mitochondrial Medicine Frontier Program, Department of Pediatrics (M.J.F., C.C.M., Z.Z.C.), The Children's Hospital of Philadelphia; University of Pennsylvania Perelman School of Medicine (M.J.F., Z.Z.C.), Philadelphia; Reata Pharmaceuticals (A. Goldsberry, C.M., M.O.), Irving, TX; University of Pittsburgh School of Medicine (A. Goldstein, J.V.), Children's Hospital of Pittsburgh of UPMC, PA; Genetics Unit (A.K.), Massachusetts General, Boston; University of Texas Medical School (M.K.K.); Baylor College of Medicine (F.S.); Texas Children's Hospital (F.S.), Houston; BCM-CUHK Center of Medical Genetics (F.S.), Prince of Wales Hospital, ShaTin, New Territories, Hong Kong; University of California Los Angeles (P.B.S.); and University of Texas Southwestern Medical Center and Neuromuscular Center (R.G.H.), Institute for Exercise & Environmental Medicine, Dallas., Scaglia F; From Copenhagen Neuromuscular Center (K.L.M., A.E.B., J.V.), Rigshospitalet, University of Copenhagen, Denmark; Akron Children's Hospital (B.H.C.), OH; Mitochondrial Medicine Frontier Program, Department of Pediatrics (M.J.F., C.C.M., Z.Z.C.), The Children's Hospital of Philadelphia; University of Pennsylvania Perelman School of Medicine (M.J.F., Z.Z.C.), Philadelphia; Reata Pharmaceuticals (A. Goldsberry, C.M., M.O.), Irving, TX; University of Pittsburgh School of Medicine (A. Goldstein, J.V.), Children's Hospital of Pittsburgh of UPMC, PA; Genetics Unit (A.K.), Massachusetts General, Boston; University of Texas Medical School (M.K.K.); Baylor College of Medicine (F.S.); Texas Children's Hospital (F.S.), Houston; BCM-CUHK Center of Medical Genetics (F.S.), Prince of Wales Hospital, ShaTin, New Territories, Hong Kong; University of California Los Angeles (P.B.S.); and University of Texas Southwestern Medical Center and Neuromuscular Center (R.G.H.), Institute for Exercise & Environmental Medicine, Dallas., Shieh PB; From Copenhagen Neuromuscular Center (K.L.M., A.E.B., J.V.), Rigshospitalet, University of Copenhagen, Denmark; Akron Children's Hospital (B.H.C.), OH; Mitochondrial Medicine Frontier Program, Department of Pediatrics (M.J.F., C.C.M., Z.Z.C.), The Children's Hospital of Philadelphia; University of Pennsylvania Perelman School of Medicine (M.J.F., Z.Z.C.), Philadelphia; Reata Pharmaceuticals (A. Goldsberry, C.M., M.O.), Irving, TX; University of Pittsburgh School of Medicine (A. Goldstein, J.V.), Children's Hospital of Pittsburgh of UPMC, PA; Genetics Unit (A.K.), Massachusetts General, Boston; University of Texas Medical School (M.K.K.); Baylor College of Medicine (F.S.); Texas Children's Hospital (F.S.), Houston; BCM-CUHK Center of Medical Genetics (F.S.), Prince of Wales Hospital, ShaTin, New Territories, Hong Kong; University of California Los Angeles (P.B.S.); and University of Texas Southwestern Medical Center and Neuromuscular Center (R.G.H.), Institute for Exercise & Environmental Medicine, Dallas., Vockley J; From Copenhagen Neuromuscular Center (K.L.M., A.E.B., J.V.), Rigshospitalet, University of Copenhagen, Denmark; Akron Children's Hospital (B.H.C.), OH; Mitochondrial Medicine Frontier Program, Department of Pediatrics (M.J.F., C.C.M., Z.Z.C.), The Children's Hospital of Philadelphia; University of Pennsylvania Perelman School of Medicine (M.J.F., Z.Z.C.), Philadelphia; Reata Pharmaceuticals (A. Goldsberry, C.M., M.O.), Irving, TX; University of Pittsburgh School of Medicine (A. Goldstein, J.V.), Children's Hospital of Pittsburgh of UPMC, PA; Genetics Unit (A.K.), Massachusetts General, Boston; University of Texas Medical School (M.K.K.); Baylor College of Medicine (F.S.); Texas Children's Hospital (F.S.), Houston; BCM-CUHK Center of Medical Genetics (F.S.), Prince of Wales Hospital, ShaTin, New Territories, Hong Kong; University of California Los Angeles (P.B.S.); and University of Texas Southwestern Medical Center and Neuromuscular Center (R.G.H.), Institute for Exercise & Environmental Medicine, Dallas., Zolkipli-Cunningham Z; From Copenhagen Neuromuscular Center (K.L.M., A.E.B., J.V.), Rigshospitalet, University of Copenhagen, Denmark; Akron Children's Hospital (B.H.C.), OH; Mitochondrial Medicine Frontier Program, Department of Pediatrics (M.J.F., C.C.M., Z.Z.C.), The Children's Hospital of Philadelphia; University of Pennsylvania Perelman School of Medicine (M.J.F., Z.Z.C.), Philadelphia; Reata Pharmaceuticals (A. Goldsberry, C.M., M.O.), Irving, TX; University of Pittsburgh School of Medicine (A. Goldstein, J.V.), Children's Hospital of Pittsburgh of UPMC, PA; Genetics Unit (A.K.), Massachusetts General, Boston; University of Texas Medical School (M.K.K.); Baylor College of Medicine (F.S.); Texas Children's Hospital (F.S.), Houston; BCM-CUHK Center of Medical Genetics (F.S.), Prince of Wales Hospital, ShaTin, New Territories, Hong Kong; University of California Los Angeles (P.B.S.); and University of Texas Southwestern Medical Center and Neuromuscular Center (R.G.H.), Institute for Exercise & Environmental Medicine, Dallas., Haller RG; From Copenhagen Neuromuscular Center (K.L.M., A.E.B., J.V.), Rigshospitalet, University of Copenhagen, Denmark; Akron Children's Hospital (B.H.C.), OH; Mitochondrial Medicine Frontier Program, Department of Pediatrics (M.J.F., C.C.M., Z.Z.C.), The Children's Hospital of Philadelphia; University of Pennsylvania Perelman School of Medicine (M.J.F., Z.Z.C.), Philadelphia; Reata Pharmaceuticals (A. Goldsberry, C.M., M.O.), Irving, TX; University of Pittsburgh School of Medicine (A. Goldstein, J.V.), Children's Hospital of Pittsburgh of UPMC, PA; Genetics Unit (A.K.), Massachusetts General, Boston; University of Texas Medical School (M.K.K.); Baylor College of Medicine (F.S.); Texas Children's Hospital (F.S.), Houston; BCM-CUHK Center of Medical Genetics (F.S.), Prince of Wales Hospital, ShaTin, New Territories, Hong Kong; University of California Los Angeles (P.B.S.); and University of Texas Southwestern Medical Center and Neuromuscular Center (R.G.H.), Institute for Exercise & Environmental Medicine, Dallas., Vissing J; From Copenhagen Neuromuscular Center (K.L.M., A.E.B., J.V.), Rigshospitalet, University of Copenhagen, Denmark; Akron Children's Hospital (B.H.C.), OH; Mitochondrial Medicine Frontier Program, Department of Pediatrics (M.J.F., C.C.M., Z.Z.C.), The Children's Hospital of Philadelphia; University of Pennsylvania Perelman School of Medicine (M.J.F., Z.Z.C.), Philadelphia; Reata Pharmaceuticals (A. Goldsberry, C.M., M.O.), Irving, TX; University of Pittsburgh School of Medicine (A. Goldstein, J.V.), Children's Hospital of Pittsburgh of UPMC, PA; Genetics Unit (A.K.), Massachusetts General, Boston; University of Texas Medical School (M.K.K.); Baylor College of Medicine (F.S.); Texas Children's Hospital (F.S.), Houston; BCM-CUHK Center of Medical Genetics (F.S.), Prince of Wales Hospital, ShaTin, New Territories, Hong Kong; University of California Los Angeles (P.B.S.); and University of Texas Southwestern Medical Center and Neuromuscular Center (R.G.H.), Institute for Exercise & Environmental Medicine, Dallas.
Publikováno v:
Neurology [Neurology] 2020 Feb 18; Vol. 94 (7), pp. e687-e698. Date of Electronic Publication: 2020 Jan 02.